How important will genomics be for future healthcare?

Biologists are stuck in an unfortunate situation. Most major funding sources in the US come through the government, and it’s essential to stress the impact your research will have on humans. Basic research for the sake of understanding the unknown just isn’t enough to secure funding nowadays. Everything has to be spun to make it appealing to humans since taxpayers are the ones funding the research, and the research needs to seem “justified” in their eyes. Want to study primate microRNAs to study how primates evolved? You better mention how microRNAs are involved in cancer, even if you have no interest in studying that. Want to figure out how spider silk proteins evolved to fulfill different biological tasks? Better mention how spider silk is stronger than Kevlar even though it’s practically impossible to mass produce.

The same is true for human genomics. When the human genome project was first announced, scientists made endless promises about how sequencing the human would lead to immense advances in human health. They had to say that to get funding for this basic research project. Years have passed and we’ve learned a great deal about the human genome, but we still haven’t had the medical revolution we were promised.

Frankly, we probably never will. For most people, getting their genome sequenced is going to be a novelty. You’ll be able to learn about your ancestry, but that’s about it. Sure, you may learn you have a 10% increase in your chance of getting heart disease, but is something that small going to change your diet and exercise routine? Only a tiny fraction of people will have diseases with very high penetrance (likelihood of showing the trait if you have the gene) that can be identified by genomics. And of those diseases, few are going to have preventative treatment or cures.

And right now that knowledge is only available to the very rich, who are more likely to have better preventative health care anyway. Yes, prices of genome sequencing are dropping rapidly, but we’re eons away from every person on the planet being able the afford their genome. Even if they could afford it, it’s not really worth it. The health of people around the world would most improve by increasing exercise and by having clean water and healthy food available. I mean, diarrhea is one of the leading causes of death in developing nations…are they really going to benefit from knowing their exact risk for diabetes? There are more basic problems that we need to fix first.

The field of human genomics is still incredibly important to study in order to learn more about our species and about disease…but it’s not going to be the panacea scientists had to promise in order to receive funding.

(I should add this isn’t just a personal opinion of mine, but one that is frequently voiced by a number of professors and other scientists during various panels I’ve attended)

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12 comments

Interesting. I hadn’t thought about it in much depth, but I had a vague feeling that in 20 years I would go to the doctor, get my genome sequenced and have an individually tailored health plan. That’s what all the articles and reports keep saying.

It should at least give clues what to screen for? But then, talking to your family should help with that.

Obrata says:

Jun 16, 2012

In winterwind’s sentiments, Interesting indeed. I cannot tell you for sure, (Heck, I’m sure you know more about it than I do considering you’re in the field) but the exact same system where biological studies must relate to human life in order to receive funding seems to be in place up here in Canada. Although in your post I am reminded of a scenario that came up in my eleventh grade biology class: What if you were required to have your genome sequenced when you applied for health insurance, so that any genetic predispositions to disease you may have would be caught and thus influence to whom health coverage was given?

Ms. Crazy Pants says:

Jun 16, 2012

I would really prefer to know rather than not know what my genome says about me. Besides, saying science is only good for what it can give us in something to sell RIGHT NOW seems ridiculous. Then why bother with any music that doesn’t make the top 100? Why bother with small-time art. Why bother doing anything at all if everything has to be about how much money we make in exactly 10 years or 20 years. What if it takes 50 – 80 years for money to pan out? Doesn’t the country that then has whatever technology that brings in money have an advantage over everyone that it can bring in a return on investment?

On the personalized healthcare plan the other commenter mentioned, I would happily pay a little extra for that. I already exercise and eat mostly healthy (doc says I’m great), but there have been a few disasters in the past where I reacted to certain medicines that were unexpected or some treatment plans just were not working for me. I would hope they could tie a genome to a best results eventually. I would have saved me years of agony and made me a much more successful person.

Anat says:

Jun 16, 2012

If world economy doesn’t collapse I expect the $1000 genome to be around within a decade or so, and it may get cheaper yet. Sequencing one’s genome will be cheaper than all the tests we have now for specific diseases (such as BRCA1 and BRCA2 for breast cancer) and will answer all those questions in one go.

And if we finally get metabolic networks properly we might be able to have access to individualized nutrition advice that considers an individual’s genome. The problem is that paper last year of the Chinese team that found rice microRNA in humans. And some unpublished work I have seen about epigenetic factors involved in obesity. So one’s genome will not provide sufficient information.

Anat says:

Jun 16, 2012

23andme already does some screening for potential reactions to some medications, I hope we get more of that in the future (I’m just one of their customers).

Trebuchet says:

Jun 16, 2012

There could be a significant negative impact of genomics if things don’t change: Insurance companies will use it determine who’s a bad risk, and deny coverage or charge higher premiums. Companies, in turn, will demand a genomic test to determine who to hire to avoid higher premiums. Not a good thing.

Dan Covill says:

Jun 16, 2012

Guess what? Like everything else, the relationship between your genes and your health turns out to be hugely more complex than it was expected to be! I have leukemia (CLL) and am having treatments at a cancer research center. They have found some gene mutations that appear to correlate with the responses to certain treatments. But guess what? It’s not one gene to one response. It’s several genes affecting many responses, in all sorts of combinations and in ways that are extremely difficult to sort out.

So yes, the genes affect your bodily health. In pretty much the same way that the weather in Asia affects the weather in the US, in extremely complex interactions that will take a lot of hard-working folks a lot of years to suss out.

From a blog entry in Science Based Medicine:
“So what the new genomic analytical techniques have re-emphasized to us in a quantitative manner that we couldn’t use before is that not only is cancer not a single disease but that cancer types are not single diseases. Breast cancers, for instance, have been shown to harbor at least 1,700 different mutations, but only three of them showed up in at least 10% of patients, with the great majority of them being unique to each patient. ”http://www.sciencebasedmedicine.org/index.php/personalized-medicine-vs-evolution/#more-19137

Lots of work to do before we can analyze the genome and prescribe treatment.

Yeah, I’m not sure which scientists you’ve been talking to, but everyone I work with recognizes the important role that genomic technologies ALREADY play in cancer management. There are certain classes of drugs that either don’t function or over-function in certain gene mutants, causing either a lack of response or debilitating adverse effects. We know about a handful of these, and are poised to discover a whole host of new ones.

If you’re asking the question of whether or not genomics will make the biggest per-dollar impact in global health then the answer is obviously ‘no’. Sanitation, roads, education, irrigation – cheap and ridiculously effective. Genomics is the opposite of that (at the macro level). That being said, it doesn’t mean that genetically-tailored treatments aren’t a huge step above the current “spray and pray” approach to cancer management specifically.